Pub. Date : 2016 Jul
PMID : 27163846
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | RESULTS: Whole exome sequencing of DNA from a patient with severe combined immunodeficiency (SCID), megaloblastic anemia and hemolytic uremic syndrome identified mutations in the MTHFD1 gene, which encodes a trifunctional enzyme involved in interconversion of folate coenzyme derivatives. | Folic Acid | methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | Homo sapiens |